Metaphyseal dysostosis - intellectual deficit - conductive deafness

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 61
OrphanetNr: 2502
OMIM Id: 250420
ICD-10: Q78.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple metaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
2
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
3
 (HPO:0001134) Anterior polar cataract 8 / 7739
4
 (HPO:0000540) Hypermetropia 99 / 7739
5
 (HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
6
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
7
 (HPO:0000403) Recurrent otitis media 61 / 7739
8
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
9
 (HPO:0001256) Intellectual disability, mild 141 / 7739
10
 (HPO:0005899) Metaphyseal dysostosis 2 / 7739
11
 (HPO:0001773) Short foot 86 / 7739
12
 (HPO:0003026) Short long bone 51 / 7739
13
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
14
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
15
 (HPO:0002979) Bowing of the legs 28 / 7739
16
 (HPO:0002868) Narrow iliac wings 15 / 7739
17
 (HPO:0001769) Broad foot 31 / 7739
18
 (HPO:0003021) Metaphyseal cupping 16 / 7739
19
 (HPO:0000911) Flat glenoid fossa 4 / 7739
20
 (HPO:0001498) Carpal bone hypoplasia 17 / 7739
21
 (HPO:0006606) Irregular chondrocostal junctions 3 / 7739
22
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
23
 (HPO:0003796) Irregular iliac crest 2 / 7739
24
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
25
 (HPO:0000773) Short ribs 70 / 7739
26
 (HPO:0006009) Broad phalanx 11 / 7739
27
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
28
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
29
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
30
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
31
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
32
 (HPO:0001388) Joint laxity 117 / 7739
33
 (HPO:0002812) Coxa vara 58 / 7739
34
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
35
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
36
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
37
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
38
 (HPO:0001169) Broad palm 43 / 7739
39
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
40
 (HPO:0003016) Metaphyseal widening 41 / 7739
41
 (HPO:0002970) Genu varum Frequent [Orphanet] 60 / 7739
42
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
43
 (HPO:0000887) Cupped ribs 9 / 7739
44
 (HPO:0001176) Large hands Very frequent [Orphanet] 43 / 7739
45
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
46
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
47
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
48
 (HPO:0001597) Abnormality of the nail 115 / 7739
49
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
50
 (OMIM) Broad, short feet 8 / 7739
51
 (OMIM) Small femoral necks 1 / 7739
52
 (OMIM) Fibula longer than tibia 1 / 7739
53
 (OMIM) Squared-off nails 1 / 7739
54
 (OMIM) Small acromion processes 1 / 7739
55
 (OMIM) Small tarsals 1 / 7739
56
 (OMIM) Irregular, widened metaphyses 2 / 7739
57
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
58
 (OMIM) Finger joint laxity 2 / 7739
59
 (OMIM) Flattened pelvic inlet 1 / 7739
60
 (MedDRA:10072883) Brachydactyly 153 / 7739
61
 (OMIM) Broad, short hands 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: